hrp0094p1-48 | Sex Endocrinology and Gonads A | ESPE2021

Gonadal Outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency

Boogers Lidewij S , Bruggenwirth Hennie T , van Bever Yolande , Hersmus Remko , Bryce Jilian , Ahmed S Faisal , Lucas-Herald Angela K , Baronio Federico , Cools Martine , Ellaithi Mona , Globa Evgenia , Guran Tulay , Tosun Busra Gurpinar , Hiort Olaf , Holterhus Paul-Martin , McElreavey Ken , Niedziela Marek , Stancampiano Marianna Rita , Wolffenbuttel Katja P , Oosterhuis J Wolter , Looijenga Leendert HJ , Hannema Sabine E ,

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...

hrp0094fc5.5 | Sex Development and Gender Incongruence | ESPE2021

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Grijp Celien , Tavernier Simon , Neirinck Jana , Abdulhadi-Atwan Maha , Van De Velde Julie , Baetens Dorien , Verdin Hannah , Morbee Lieve , De Baere Elfride , Zangen David , Bonroy Carolien , Van Bever Yolande , Bruggenwirth Hennie , Vermont Clementien , Hannema Sabine , De Rijke Yolanda , Schelstraete Petra , Haerynck Filomeen , Cools Martine ,

Background: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...

hrp0084p3-1195 | Thyroid | ESPE2015

The Evaluation of CD8+CD122+T Cells in Children with Autoimmune Thyroiditis

Kucharska Anna , Stelmaszczyk-Emmel Anna , Popko Katarzyna , Pyrzak Beata , Kadziela Katarzyna

Background: The basic subset of T cells playing a major role in the pathogenesis of Hashimoto’s thyroiditis are CD8+T cells. The mechanism of disease initiation is dysfunction of natural Tregs leading to breakdown of the self-tolerance. The best known subset of natural Tregs are CD4+Foxp3+T, but CD8+T cells expressing CD122 were also recognized as functional Treg cells.Objective and hypotheses: The aimof the study was to evaluate the contribution of...

hrp0089rfc5.2 | Thyroid | ESPE2018

Analysis of Chosen Polymorphisms rs7138803 A/G - FAIM2, rs7093069 C/T - IL-2RA, rs5742909 C/T - CTLA-4 in Pathogenesis of Hashimoto’s Thyroiditis in Children

Bossowski Artur , Gościk Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Aversa Tommaso , Corica Domenico , Krętowski Adam , Waśniewska Małgorzata

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

hrp0084p2-561 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs5742909 C/T – CTLA4, rs7522061 C/T – FCRL3, rs7138803 A/G – FAIM2 in Pathogenesis of Autoimmune Thyroid Diseases in Children

Jakubowska Ewa , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

hrp0086p2-p91 | Adrenal P2 | ESPE2016

Corticosteroid-Induced Adrenal Insufficiency in a Child with T Cell Lymphoblastic Lymphoma

Lee Sang Hyun , Son Kyung Lae , Sim Yeji , Kim Heung Sik

Background: Glucocorticoids play a major role in the treatment of lymphoblastic lymphoma. However, supraphysiological glucocorticoid therapy may cause the secondary adrenal insufficiency.Presentation of case: A 11-year-old boy with T cell lymphoblastic lymphoma, treated according to COG A5971 protocol, experienced sudden onset of tremor and general weakness in the first day after tapering 28 days of glucocorticoid therapy. He had a moon face and pigmenta...

hrp0082p1-d2-244 | Thyroid (1) | ESPE2014

Treatment of Graves’ Disease with Methimazole in Children Alters the Proliferation of Treg Cells and T Lymphocytes

Klatka Maria , Grywalska Ewelina , Wasiak Magdalena , Rolinski Jacek

Background: Graves’ disease (GD) is almost always the cause of hyperthyroidism in children. Studies carried out for recent years confirm an important role of T regulatory cells (Tregs) in the development of autoimmune diseases. However, the interactions between T-cell response and Treg proliferation in GD is still poorly understood.Objective and hypotheses: The aim of this research was the assessment of the in vitro proliferation of Treg ce...

hrp0086p2-p870 | Syndromes: Mechanisms and Management P2 | ESPE2016

Children with Down’s Syndrome Show Quantitative, Phenotypical and Functional Differences of Effector T-Cells Compared to Immunocompetent Controls

Schoch Justine , Schmidt Tina , Jung Anna-Maria , Kastner Michael , Abdul-Khaliq Hashim , Gortner Ludwig , Sester Martina , Rohrer Tilman

Background: Trisomy 21 is associated with an increased susceptibility to respiratory infections.Objective and hypotheses: For a more detailed characterization of the adaptive immune response, we analyzed the cellular and humoral immunity to specific pathogens in blood samples of 40 children with Down’s syndrome in comparison to 51 age-matched controls.Method: We quantitatively analyzed lymphocyte subpopulations using flow cyto...

hrp0092t5 | Top 20 Poster | ESPE2019

Evaluation of Toll-like Receptor 2 Expression on T Lymphocytes in Patients with Graves' Disease in Relation to the Clinical Parameters

Klatka Maria , Grywalska Ewelina , Polak Agnieszka

Introduction: Graves'disease (GD) is a polygenic and multifactorial disease.The innate immune system is a complex network of structured cells and proteins, including the Toll-like receptors (TLRs), which are also expressed on the cells of the adaptive immune system.The aim was to assess the relationship between the expression of TLR-2 on the surface of T CD4+ and CD8+ lymphocytes in pat...

hrp0089p1-p085 | Diabetes &amp; Insulin P1 | ESPE2018

T- and B-Lymphocytes Levels in Children with Type 1 Diabetes in Association with Candida Infection

Elkina Stanimira , Blajeva Svetla , Halvadzhiyan Irina , Botzova Venetziya , Petrova Chayka

Although type 1 diabetes (T1D) is most common autoimmune chronic metabolic disease in childhood, data about the role of T-Lymphocytes (T-Ly) and B-Lymphocytes (B-Ly) in children after the diabetes onset are still controversial. The aim of the study was to evaluate the serum levels of T– and B-Ly in children with T1D as a predisposing factor for genital candidiasis (GC).Material: We studied 71 children with T1D at the age of 6 to 18 years, divided in...